Mutation Details for c.2924_2925delGA

cDNA Name c.2924_2925delGA 
Protein Name p.Arg975IlefsX10 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name 3056delGA 
Other Details This mutation destroys a HinfI site and was found in two unrelated Danish patients on hapltype C7 (KM19/XV2c/IVS8CA). 
Contributors Schwartz M, Palle AL, Vedel G, Larsen P   1993-02-12
Institute Section of Clinical Genetics Copenhagen, Denmark  
Submitted Phenotype Details  
Reference Schwartz et al. (NL#53) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011